Variant report

Variant	esv3357734
Chromosome Location	chr1:97979399-97979952
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79394036	chr1:97979404-97979405	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs576754195	chr1:97979405-97979406	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546215754	chr1:97979423-97979424	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559982931	chr1:97979435-97979436	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs148166201	chr1:97979443-97979444	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs182978024	chr1:97979444-97979445	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559313349	chr1:97979450-97979451	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs527935819	chr1:97979462-97979463	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528724777	chr1:97979497-97979498	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533873391	chr1:97979501-97979502	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542410493	chr1:97979530-97979531	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187401644	chr1:97979587-97979588	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530925573	chr1:97979604-97979605	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548188018	chr1:97979605-97979606	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564167729	chr1:97979621-97979622	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191848648	chr1:97979656-97979657	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs1556796	chr1:97979675-97979676	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs565967873	chr1:97979682-97979683	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567726488	chr1:97979685-97979686	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7545340	chr1:97979726-97979727	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs114194872	chr1:97979739-97979740	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs141947168	chr1:97979747-97979748	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183981022	chr1:97979762-97979763	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs147288173	chr1:97979767-97979768	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188324810	chr1:97979785-97979786	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs140418299	chr1:97979806-97979807	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573489067	chr1:97979824-97979825	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs144275479	chr1:97979844-97979845	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs147372584	chr1:97979870-97979871	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369565943	chr1:97979895-97979896	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192694318	chr1:97979904-97979905	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2068642	chr1:97979906-97979907	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs61789182	chr1:97979931-97979932	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544236308	chr1:97979942-97979943	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Autism	17483303	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Intestinal disease	21956041	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Gastric cancer	16891809	CNVD
Schizophrenia	17879154	CNVD
Mental retardation	17124404	CNVD
Intestinal disease	17828263	CNVD
Malignant melanoma	17260012	CNVD
lymphocytic leukemia	21291569	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20803296	CNVD
Colorectal cancer	20653680	CNVD
Breast cancer	22522925	CNVD
Williams Syndrome	20824207	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:97872600-98014600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr1:97928600-98018200	Weak transcription	Ovary	ovary
3	chr1:97955800-97990000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:97956400-98009400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr1:97963000-98009400	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr1:97964600-98010400	Weak transcription	Dnd41	blood
7	chr1:97965000-97985200	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr1:97966400-97988400	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr1:97967200-97982600	Weak transcription	Pancreas	Pancrea
10	chr1:97967200-97982600	Weak transcription	HSMM	muscle
11	chr1:97972000-97985600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr1:97972200-97985200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr1:97972400-97983400	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr1:97972400-97988600	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr1:97973800-97996200	Weak transcription	Osteobl	bone
16	chr1:97974800-97981400	Weak transcription	Lung	lung
17	chr1:97976000-97983400	Weak transcription	Fetal Heart	heart
18	chr1:97976400-97980400	Weak transcription	Fetal Lung	lung
19	chr1:97976400-97982400	Weak transcription	Brain Substantia Nigra	brain
20	chr1:97976400-97983000	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr1:97976600-97999000	Weak transcription	Liver	Liver
22	chr1:97976600-98014600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:97976600-98054200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:97976800-97981400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr1:97976800-97981800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr1:97976800-97985200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr1:97976800-97988200	Weak transcription	Primary T cells from cord blood	blood
28	chr1:97976800-98009400	Weak transcription	Primary B cells from cord blood	blood
29	chr1:97976800-98051400	Weak transcription	Left Ventricle	heart
30	chr1:97977400-97986800	Weak transcription	Primary hematopoietic stem cells	blood
31	chr1:97978600-97983800	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr1:97979200-97980000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr1:97979600-97980800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:97979800-97980000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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